Genetic variations in different loci and genes are important in asthma pathogenesis. There is much importance of various immunological pathways in the IgE secretion regulation. Alterations in any main part of these pathways can increase the risk of asthma development. Polymorphisms in these genetic markers can effect certain pathways which predict the asthma susceptibility. In the present study, SNPs directly or indirectly affecting the immunological process pathways are selected.
This study was conducted to determine association of 16 SNPs in 10 candidate genes with asthma in Pakistani population in 333 asthmatic cases and 220 healthy controls. Genotyping was performed using the Sequenom Mass ARRAY iPLEX platform (14 SNPs) and TaqMan assay (2 SNPs).
The minor allele at two of the SNPs showed association with protection from asthma, rs1131882 inTBXA2Rgene (OR 0.73, 95% CI 0.52-1.01,P = 0.05) and rs2280091 in theADAM33gene (OR 0.69, 95% CI 0.50-0.97,P = 0.03). ForFCER1Bgene, rs2583476 the asthmatic male gender had higher TT genotype counts as compared to controls (OR = 1.86, 95% CI = 1.09-3.17,p = 0.01). In rs11650680 ofORMDL3gene the CT genotype is more prevalent in female asthma cases in comparison with female controls (OR = 1.99, 95% CI = 1.02-3.89,p = 0.03).
This data suggests that variations atTBXA2RandADAM33genes are found to be associated with asthma susceptibility in Pakistan.FCER1Bgene is associated with male andORMDL3in female asthmatics. These genetic markers can be important source of asthma risk in Pakistani population.